Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14769084G>T , CM000667.2:g.14769084G>T | GRCh38 |
| NC_000005.9:g.14769193G>T , CM000667.1:g.14769193G>T | GRCh37 |
| NC_000005.8:g.14822193G>T | NCBI36 |
| NG_008273.1:g.107695C>A | |
| NG_008273.2:g.107702C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.204C>A MANE Select | ENSP00000284268.6:p.Asp68Glu | |
| ENST00000646501.1:c.67C>A | ||
| ENST00000284268.6:c.204C>A | ENSP00000284268.6:p.Asp68Glu | |
| ENST00000503389.1:n.210C>A | ||
| ENST00000513115.1:n.229C>A | ||
| NM_054027.4:c.204C>A | NP_473368.1:p.Asp68Glu | |
| XM_011514067.1:c.204C>A | XP_011512369.1:p.Asp68Glu | |
| NM_054027.5:c.204C>A | NP_473368.1:p.Asp68Glu | |
| XM_017009644.2:c.120C>A | XP_016865133.1:p.Asp40Glu | |
| NM_054027.6:c.204C>A MANE Select | NP_473368.1:p.Asp68Glu |